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UniProtKB/Swiss-Prot Q16613: Variant p.Ala129Thr

Serotonin N-acetyltransferase
Gene: AANAT
Variant information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Threonine (T) at position 129 (A129T, p.Ala129Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from small size and hydrophobic (A) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  Found in individuals with delayed sleep phase syndrome; has higher frequency in affected individuals than in healthy controls; unknown pathological significance.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  129
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  207
The length of the canonical sequence.

Location on the sequence:   LTLHRSGGHIAHLHVLAVHR  A FRQQGRGPILLWRYLHHLGS
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.

Residue conservation: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LTLHRSGGHIAHLHVLAVHRAFRQQGRGPILLWRYLHHLGS

Rhesus macaque                LTMHRPGGHIAHLHVLAVHCAFRQQGRGPILLWRYLHHLGS

Chimpanzee                    LTLHRSGGHIAHLHVLAVHRAFRQQGRGPILLWRYLHHLGS

Mouse                         LTLHRPGGRTAHLHVLAVHRTFRQQGKGSVLLWRYLHHLGS

Rat                           LTLHRPGGRTAHLHVLAVHRTFRQQGKGSVLLWRYLHHLGS

Bovine                        LTLHRPGGRTAHLHALAVHHSFRQQGKGSVLLWRYLQHAGG

Sheep                         LALHRPRGHSAHLHALAVHRSFRQQGKGSVLLWRYLHHVGA

Chicken                       LTLHNPRGTAVHIHVLAVHRTFRQQGKGSILMWRYLQYLRC

Sequence annotation in neighborhood:  
The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
  • Type: the type of sequence feature.
  • Positions: endpoints of the sequence feature.
  • Description: contains additional information about the feature.

TypePositionsDescription
Chain 1 – 207 Serotonin N-acetyltransferase
Domain 35 – 194 N-acetyltransferase
Binding site 124 – 124 Substrate; via amide nitrogen
Site 120 – 120 Important for the catalytic mechanism; involved in substrate deprotonation
Site 122 – 122 Important for the catalytic mechanism; involved in substrate deprotonation


Literature citations

Significant association of the arylalkylamine N-acetyltransferase (AA-NAT) gene with delayed sleep phase syndrome.
Hohjoh H.; Takasu M.; Shishikura K.; Takahashi Y.; Honda Y.; Tokunaga K.;
Neurogenetics 4:151-153(2003)
Cited for: VARIANT THR-129;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.